Progenika Inc


Genetic Diagnosis of Familial Hypercholesterolemia


Seqpro lipoSEQPRO LIPO IS CE Mark is Progenika’ solution for Familial Hypercholesterolemia genetic diagnosis for Next Generation Sequencing ILLUMINA® MiSeq equipment.

Autosomal Dominant Hypercholesterolemia  (ADH) is caused by mutations in LDLR, APOB, PCSK9, APOE and STAP1 genes, while Autosomal Recessive

Familial Hypercholesterolemia (ARH) is caused by mutations in the LDLRAP1 gene.  Progenika’s new SEQPRO LIPO IS for ILLUMINA detects them all for an accurate diagnosis.


  • Simultaneous detection of all possible FH mutations.
  • 6 FH related genes analyzed: LDLR, APOB, PCSK9, APOE, STAP1 (ADH) and LDLRAP1 (ARH).
  • Simplicity & latest Technology: analysis  of DNA from Blood or saliva samples.
  • This new product complements Progenika’s portfolio for FH, including our Lab Services: CLIA & CAP Accredited Laboratory at Progenika Inc. in San Marcos, TX (USA), and Clinical Diagnosis Laboratory at Progenika’ Headquarters in Derio (SPAIN). 

Benefits of FH Genetic Diagnosis

  • Product kitHigh specificity, sensibility and accuracy for a disease widely under-diagnosed.¹
  • Familial Diagnosis of the disease in patients’ relatives – cascade screening.²
  • Early Diagnosis at any age (children), even before clinical symptoms have been developed.³
  • Personalized treatment after prognosis of the severity of the FH derived atherosclerosis.?
  • Better treatment compliance.?
  • Cost-effectiveness.?


1. World Health  Organization. Human Genetic Program. Familial Hypercholesterolemia, report of a WHO consultation. WHO/HGN/FH/CONS//98.7 Paris; October 1997.
2. Van Aalst-Cohen et al. Diagnosing Familial Hypercholestrolemia: the relevance of genetic testing. European Heart Journal 2006; 27:2240-2246.
3. Leren et al. Cascade genetic screening for Familial Hypercholesterolemia. Clin Genet 2004; 66:483-487.
4. Junyent et al. Impact of low density lipoprotein receptor mutational class on carotid atherosclerosis in patients with Familial Hypercholesterolemia. Atherosclerosis 2010; 208:437-441.
5. Umans-Eckenhausen et al. Long Term Compliance With Lipid-Lowering medication After Genetic Screening for Familial Hypercholesterolemia. Arch Intern Med 2003; 163:65-68.
6. Wonderling et al. Cost-effetiveness analysis of the genetic screening program for Familial Hypercholesterolemia in the  Netherlands. Semin Vasc Med 2004; 4:97-104.

SEQPRO LIPO IS Report & FH Mutation Database

  • SEQPRO LIPO Report: perfect combination of genetic and clinical interpretation.
  • Access to Progenika’s unique and continuous updating FH mutation database ( >1600 variants).
  • Progenika’ proven experience: More than 10 years of FH genetic diagnosis
  • > 17.000 patients screened.
  • Tool of first choice for clinical trials by big pharmas*.

*(Frederick J. Raal et al. Inhibition of PCSK9 with evolocumab in homozygous Familial Hypercholesterolemia (TESLA Part B): a randomized, double-blind, placebo controlled trial. Lancet: 2015; 385;341-50).

Quality commitment:


SEQPRO LIPO IS® is manufactured at Progenika Biopharma, S.A. Facilities in Derio, (Spain) under a QMS certified by TÜV SÜD on ISO 13485: 2016 and MDSAP.

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With the collaboration of: